Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease. In this study, we evaluated the frequency of GBA mutations in British patients affected by Parkinson's disease. We utilized the DNA of 790 patients and 257 controls, matched for age and ethnicity, to screen for mutations within the GBA gene. Clinical data on all identified GBA mutation carriers was reviewed and analysed. Additionally, in all cases where brain material was available, a…

• UD
  U.S. Department of Health and Human Services
• PU
  Parkinson's UK

  Award: 948776
• BR
  Brain Research Trust
• IC
  Imperial College London
• SD
  Studienstiftung des Deutschen Volkes
• NI
  National Institutes of Health
• MR
  Medical Research Council

  Award: G0400074
• NI
  National Institute on Aging
• RL
  Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology,University College London